Titre : Philadelphie

Philadelphie : Questions médicales fréquentes

Termes MeSH sélectionnés :

DNA Copy Number Variations
{ "@context": "https://schema.org", "@graph": [ { "@type": "MedicalWebPage", "name": "Philadelphie : Questions médicales les plus fréquentes", "headline": "Philadelphie : Comprendre les symptômes, diagnostics et traitements", "description": "Guide complet et accessible sur les Philadelphie : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.", "datePublished": "2024-07-08", "dateModified": "2025-04-04", "inLanguage": "fr", "medicalAudience": [ { "@type": "MedicalAudience", "name": "Grand public", "audienceType": "Patient", "healthCondition": { "@type": "MedicalCondition", "name": "Philadelphie" }, "suggestedMinAge": 18, "suggestedGender": "unisex" }, { "@type": "MedicalAudience", "name": "Médecins", "audienceType": "Physician", "geographicArea": { "@type": "AdministrativeArea", "name": "France" } }, { "@type": "MedicalAudience", "name": "Chercheurs", "audienceType": "Researcher", "geographicArea": { "@type": "AdministrativeArea", "name": "International" } } ], "reviewedBy": { "@type": "Person", "name": "Dr Olivier Menir", "jobTitle": "Expert en Médecine", "description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale", "url": "/static/pages/docteur-olivier-menir.html", "alumniOf": { "@type": "EducationalOrganization", "name": "Université Paris Descartes" } }, "isPartOf": { "@type": "MedicalWebPage", "name": "Villes", "url": "https://questionsmedicales.fr/mesh/D002947", "about": { "@type": "MedicalCondition", "name": "Villes", "code": { "@type": "MedicalCode", "code": "D002947", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.433" } } }, "about": { "@type": "MedicalCondition", "name": "Philadelphie", "alternateName": "Philadelphia", "code": { "@type": "MedicalCode", "code": "D015143", "codingSystem": "MeSH" } }, "author": [ { "@type": "Person", "name": "Margaret Lowenstein", "url": "https://questionsmedicales.fr/author/Margaret%20Lowenstein", "affiliation": { "@type": "Organization", "name": "" } }, { "@type": "Person", "name": "Kabindra M Shakya", "url": "https://questionsmedicales.fr/author/Kabindra%20M%20Shakya", "affiliation": { "@type": "Organization", "name": "Department of Geography and the Environment, Villanova University, Villanova, PA, USA. kabindra.shakya@villanova.edu." } }, { "@type": "Person", "name": "Akihiko Gotoh", "url": "https://questionsmedicales.fr/author/Akihiko%20Gotoh", "affiliation": { "@type": "Organization", "name": "Department of Hematology, Tokyo Medical University, Tokyo, Japan." } }, { "@type": "Person", "name": "Christina A Roberto", "url": "https://questionsmedicales.fr/author/Christina%20A%20Roberto", "affiliation": { "@type": "Organization", "name": "Department of Medical Ethics and Health Policy, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA." } }, { "@type": "Person", "name": "Leah H Schinasi", "url": "https://questionsmedicales.fr/author/Leah%20H%20Schinasi", "affiliation": { "@type": "Organization", "name": "Dornsife School of Public Health, Urban Health Collaborative, Drexel University, Philadelphia, PA, USA. lhs36@drexel.edu." } } ], "citation": [ { "@type": "ScholarlyArticle", "name": "Copy-number analysis by base-level normalization: An intuitive visualization tool for evaluating copy number variations.", "datePublished": "2022-10-03", "url": "https://questionsmedicales.fr/article/36152294", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1111/cge.14236" } }, { "@type": "ScholarlyArticle", "name": "Multiple copy number variation in a patient with Kleefstra syndrome.", "datePublished": "2023-09-15", "url": "https://questionsmedicales.fr/article/37729241", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1590/1984-0462/2024/42/2022230" } }, { "@type": "ScholarlyArticle", "name": "Clinical Findings on Chromosome 1 Copy Number Variations.", "datePublished": "2022-07-14", "url": "https://questionsmedicales.fr/article/35835157", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1055/s-0042-1754162" } }, { "@type": "ScholarlyArticle", "name": "Copy Number Variation among Resistance Genes Analogues in", "datePublished": "2022-11-04", "url": "https://questionsmedicales.fr/article/36360273", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.3390/genes13112037" } }, { "@type": "ScholarlyArticle", "name": "A crowdsourcing database for the copy-number variation of the Spanish population.", "datePublished": "2023-03-09", "url": "https://questionsmedicales.fr/article/36894999", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1186/s40246-023-00466-8" } } ], "breadcrumb": { "@type": "BreadcrumbList", "itemListElement": [ { "@type": "ListItem", "position": 1, "name": "questionsmedicales.fr", "item": "https://questionsmedicales.fr" }, { "@type": "ListItem", "position": 2, "name": "Régions géographiques", "item": "https://questionsmedicales.fr/mesh/D005842" }, { "@type": "ListItem", "position": 3, "name": "Villes", "item": "https://questionsmedicales.fr/mesh/D002947" }, { "@type": "ListItem", "position": 4, "name": "Philadelphie", "item": "https://questionsmedicales.fr/mesh/D015143" } ] } }, { "@type": "MedicalWebPage", "name": "Article complet : Philadelphie - Questions et réponses", "headline": "Questions et réponses médicales fréquentes sur Philadelphie", "description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.", "datePublished": "2025-05-15", "inLanguage": "fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur Philadelphie", "description": "Comment diagnostiquer la leucémie myéloïde chronique ?\nQuels tests sont utilisés pour confirmer la présence du chromosome de Philadelphie ?\nQuels signes cliniques indiquent une LMC ?\nQuel rôle joue l'hémogramme dans le diagnostic ?\nQuand faut-il suspecter une LMC ?", "url": "https://questionsmedicales.fr/mesh/D015143?mesh_terms=DNA+Copy+Number+Variations&page=2#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Philadelphie", "description": "Quels sont les symptômes courants de la LMC ?\nLa splénomégalie est-elle un symptôme de la LMC ?\nLes sueurs nocturnes sont-elles liées à la LMC ?\nComment la LMC affecte-t-elle l'énergie du patient ?\nLes infections fréquentes sont-elles un symptôme de la LMC ?", "url": "https://questionsmedicales.fr/mesh/D015143?mesh_terms=DNA+Copy+Number+Variations&page=2#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Philadelphie", "description": "Peut-on prévenir la LMC ?\nQuels facteurs de risque sont associés à la LMC ?\nLe tabagisme influence-t-il le risque de LMC ?\nLes antécédents familiaux jouent-ils un rôle ?\nComment réduire le risque de LMC ?", "url": "https://questionsmedicales.fr/mesh/D015143?mesh_terms=DNA+Copy+Number+Variations&page=2#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Philadelphie", "description": "Quels traitements sont disponibles pour la LMC ?\nQuel est le rôle des inhibiteurs de tyrosine kinase ?\nLa greffe de moelle osseuse est-elle une option ?\nQuels effets secondaires peuvent survenir avec le traitement ?\nComment surveiller l'efficacité du traitement ?", "url": "https://questionsmedicales.fr/mesh/D015143?mesh_terms=DNA+Copy+Number+Variations&page=2#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Philadelphie", "description": "Quelles complications peuvent survenir avec la LMC ?\nQu'est-ce qu'une crise blastique ?\nLa résistance au traitement est-elle une complication ?\nComment les complications affectent-elles le pronostic ?\nLes complications peuvent-elles être gérées ?", "url": "https://questionsmedicales.fr/mesh/D015143?mesh_terms=DNA+Copy+Number+Variations&page=2#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Philadelphie", "description": "Quels sont les principaux facteurs de risque de la LMC ?\nL'âge influence-t-il le risque de LMC ?\nLes maladies génétiques augmentent-elles le risque ?\nLe sexe joue-t-il un rôle dans le risque de LMC ?\nLes infections virales sont-elles un facteur de risque ?", "url": "https://questionsmedicales.fr/mesh/D015143?mesh_terms=DNA+Copy+Number+Variations&page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer la leucémie myéloïde chronique ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic se fait par un test sanguin et une analyse cytogénétique pour détecter le chromosome de Philadelphie." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour confirmer la présence du chromosome de Philadelphie ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Les tests de fluorescence in situ hybridation (FISH) et la PCR sont utilisés." } }, { "@type": "Question", "name": "Quels signes cliniques indiquent une LMC ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Fatigue, perte de poids, sueurs nocturnes et splénomégalie sont des signes courants." } }, { "@type": "Question", "name": "Quel rôle joue l'hémogramme dans le diagnostic ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "L'hémogramme révèle une augmentation des globules blancs, un indicateur clé de la LMC." } }, { "@type": "Question", "name": "Quand faut-il suspecter une LMC ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "En cas de symptômes persistants et d'anomalies dans les tests sanguins, la LMC doit être suspectée." } }, { "@type": "Question", "name": "Quels sont les symptômes courants de la LMC ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent fatigue, fièvre, douleurs osseuses et saignements fréquents." } }, { "@type": "Question", "name": "La splénomégalie est-elle un symptôme de la LMC ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la splénomégalie est fréquente et peut causer des douleurs abdominales." } }, { "@type": "Question", "name": "Les sueurs nocturnes sont-elles liées à la LMC ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les sueurs nocturnes sont un symptôme courant chez les patients atteints de LMC." } }, { "@type": "Question", "name": "Comment la LMC affecte-t-elle l'énergie du patient ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Les patients peuvent ressentir une fatigue intense due à l'anémie et à la maladie elle-même." } }, { "@type": "Question", "name": "Les infections fréquentes sont-elles un symptôme de la LMC ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les infections fréquentes peuvent survenir en raison d'une immunité affaiblie." } }, { "@type": "Question", "name": "Peut-on prévenir la LMC ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de méthode de prévention spécifique pour la LMC, car elle est souvent liée à des facteurs génétiques." } }, { "@type": "Question", "name": "Quels facteurs de risque sont associés à la LMC ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "L'exposition aux radiations et certains produits chimiques augmentent le risque de LMC." } }, { "@type": "Question", "name": "Le tabagisme influence-t-il le risque de LMC ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Le tabagisme est un facteur de risque potentiel, bien que moins étudié que d'autres facteurs." } }, { "@type": "Question", "name": "Les antécédents familiaux jouent-ils un rôle ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des antécédents familiaux de cancers hématologiques peuvent augmenter le risque." } }, { "@type": "Question", "name": "Comment réduire le risque de LMC ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Éviter l'exposition aux produits chimiques nocifs et aux radiations peut aider à réduire le risque." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour la LMC ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent les inhibiteurs de tyrosine kinase, la chimiothérapie et la greffe de moelle." } }, { "@type": "Question", "name": "Quel est le rôle des inhibiteurs de tyrosine kinase ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Ils ciblent spécifiquement les cellules cancéreuses et bloquent leur croissance." } }, { "@type": "Question", "name": "La greffe de moelle osseuse est-elle une option ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la greffe peut être envisagée pour les cas avancés ou résistants au traitement." } }, { "@type": "Question", "name": "Quels effets secondaires peuvent survenir avec le traitement ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Les effets secondaires incluent nausées, fatigue, et risque accru d'infections." } }, { "@type": "Question", "name": "Comment surveiller l'efficacité du traitement ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Des tests sanguins réguliers et des examens de suivi sont nécessaires pour évaluer la réponse." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec la LMC ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des infections, des saignements et des crises blastiques." } }, { "@type": "Question", "name": "Qu'est-ce qu'une crise blastique ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "C'est une progression de la LMC vers une forme plus agressive, ressemblant à une leucémie aiguë." } }, { "@type": "Question", "name": "La résistance au traitement est-elle une complication ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains patients peuvent développer une résistance aux inhibiteurs de tyrosine kinase." } }, { "@type": "Question", "name": "Comment les complications affectent-elles le pronostic ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Les complications peuvent aggraver le pronostic et nécessiter des traitements plus intensifs." } }, { "@type": "Question", "name": "Les complications peuvent-elles être gérées ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la gestion des complications est essentielle pour améliorer la qualité de vie des patients." } }, { "@type": "Question", "name": "Quels sont les principaux facteurs de risque de la LMC ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "L'exposition aux radiations, certains produits chimiques et des antécédents familiaux sont des facteurs clés." } }, { "@type": "Question", "name": "L'âge influence-t-il le risque de LMC ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la LMC est plus fréquente chez les adultes âgés de 50 à 70 ans." } }, { "@type": "Question", "name": "Les maladies génétiques augmentent-elles le risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Certaines maladies génétiques, comme le syndrome de Down, peuvent augmenter le risque de LMC." } }, { "@type": "Question", "name": "Le sexe joue-t-il un rôle dans le risque de LMC ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les hommes sont légèrement plus susceptibles de développer la LMC que les femmes." } }, { "@type": "Question", "name": "Les infections virales sont-elles un facteur de risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Certaines infections virales, comme le virus d'Epstein-Barr, peuvent être associées à un risque accru." } } ] } ] }

Sources (10000 au total)

Multiple copy number variation in a patient with Kleefstra syndrome.

To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants.... Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelorism, broad forehead, brachycephaly, hypotonia, ligament laxity, unilateral single palmar cre... The presence of pathogenic CNVs and/or those of uncertain significance, located on chromosomes 2, 6 and Y, may be contributing to a variability in the patient's clinical condition (arachnoid cyst, sin...

A crowdsourcing database for the copy-number variation of the Spanish population.

Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood. The knowledge of the genetic variability, especia... Here, we present the SPAnish Copy Number Alterations Collaborative Server (SPACNACS), which currently contains copy number variation profiles obtained from more than 400 genomes and exomes of unrelate... SPACNACS facilitates disease gene discovery by providing detailed information of the local variability of the population and exemplifies how to reuse genomic data produced for other purposes to build ...

Association between clinical variations and copy number variations in cases with Turner syndrome.

Turner syndrome (TS) is one of the most common chromosomal abnormalities with an incidence of approximately one in 2,500 live births. Short stature and primary ovarian insufficiency are two most impor... Fifty-three patients diagnosed with TS, between the ages of 0-18 were included in the study. Peripheral blood samples were taken from 36 cases for microarray study.... Karyotypes were as follows: thirty-three of cases were 45,X, 7 were 45,X/46,XX, 6 were 45,X/46,Xi(Xq), 2 were 46,Xi(Xq), 2 were 45,X/46,r(X), 1 was 45,X/46,Xi(Xp), 1 was 45,X/46,XY and 1 was 45,X/46,X... In conclusion, the microarray method has a great contribution in explaining many unexpected findings in TS cases. Moreover, those CNV findings may contribute for the explanation of the underlying mech...

A comprehensive analysis of copy number variations in diverse apple populations.

As an important source of genetic variation, copy number variation (CNV) can alter the dosage of DNA segments, which in turn may affect gene expression level and phenotype. However, our knowledge of C... In this study, we identified 914,610 CNVs comprising 14,839 CNV regions (CNVRs) from 346 apple accessions, including 289 cultivars and 57 wild relatives. CNVRs summed to 71.19 Mb, accounting for 10.03... This study was based on identification of CNVs from 346 diverse apple accessions, which to our knowledge was the largest dataset for CNV analysis in apple. Our work presented the first comprehensive C...

Analysis of copy number variation in men with non-obstructive azoospermia.

Recent findings demonstrate that single nucleotide variants can cause non-obstructive azoospermia (NOA). In contrast, copy number variants (CNVs) were only analysed in few studies in infertile men. So... This study aimed to elucidate if CNVs are associated with NOA.... We performed array-based comparative genomic hybridisation (aCGH) in 37 men with meiotic arrest, 194 men with Sertoli cell-only phenotype, and 21 control men. We filtered our data for deletions affect... We determined the cause of infertility in two individuals with homozygous deletions of SYCE1 and in one individual with a heterozygous deletion of SYCE1 combined with a likely pathogenic missense vari... While SYCE1 and MLH3 encode known meiosis-specific proteins, much less is known about the proteins encoded by the other identified candidate genes, warranting further analyses. We were able to identif... As aCGH and exome sequencing are both expensive methods, combining both in a clinical routine is not an effective strategy. Instead, using CNV calling from exome data has recently become more precise,...